CRYAA, crystallin alpha A, 1409

N. diseases: 40; N. variants: 18
Disease: Coloboma of iris ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs74315439
rs74315439 		0.790 0.200 21 43172104 missense variant C/A;T snv
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2007 2007